http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_head http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_provenance http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion http://identifiers.org/ncbigene/338442 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0221060 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN136d85e94ac9910ab5a5079e974401a4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/338442 http://rdf.disgenet.org/gene-disease-association.ttl#DGN136d85e94ac9910ab5a5079e974401a4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0221060 http://rdf.disgenet.org/gene-disease-association.ttl#DGN136d85e94ac9910ab5a5079e974401a4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_provenance http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion http://purl.org/dc/terms/description [The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15327960 http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/dc/terms/created 2014-10-02T12:39:43+02:00 http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP764652.RAa08ZBCxHrmoFtIA32gQPxnCQtM4mkvtYw0P-rBE6F2M http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0